ABRA — 76 ClinVar variants
All ClinVar germline ABRA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →
3 Likely benign · 73 Uncertain significance
Full ABRA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 75
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABRA p.Ala62Thr Uncertain significance Single submitter
- ABRA p.Ala62Val Uncertain significance Single submitter
- ABRA p.Arg149Ser Uncertain significance Single submitter
- ABRA p.Arg203Lys Uncertain significance Single submitter
- ABRA p.Arg218Pro Uncertain significance Single submitter
- ABRA p.Arg248Lys Uncertain significance Single submitter
- ABRA p.Arg308Thr Uncertain significance Single submitter
- ABRA p.Arg342His Uncertain significance Single submitter
- ABRA p.Arg355Gly Uncertain significance Single submitter
- ABRA p.Arg371Gly Uncertain significance Single submitter
- ABRA p.Asp207Gly Uncertain significance Single submitter
- ABRA p.Asp91Gly Uncertain significance Single submitter
- ABRA p.Gln258Glu Uncertain significance Single submitter
- ABRA p.Gln57Arg Uncertain significance Single submitter
- ABRA p.Glu132Lys Uncertain significance Single submitter
- ABRA p.Glu178Ala Uncertain significance Single submitter
- ABRA p.Glu5Gly Uncertain significance Single submitter
- ABRA p.Gly155Ser Uncertain significance Single submitter
- ABRA p.Gly195Ser Uncertain significance Single submitter
- ABRA p.Gly282Glu Uncertain significance Single submitter
- ABRA p.Gly349Ser Uncertain significance Single submitter
- ABRA p.Gly370Ser Uncertain significance Single submitter
- ABRA p.Gly54Ala Uncertain significance Single submitter
- ABRA p.Ile377Met Uncertain significance Single submitter
- ABRA p.Leu231Pro Uncertain significance Single submitter
- ABRA p.Leu336Arg Uncertain significance Single submitter
- ABRA p.Leu52Pro Uncertain significance Single submitter
- ABRA p.Lys19Glu Uncertain significance Single submitter
- ABRA p.Lys238Ile Uncertain significance Single submitter
- ABRA p.Phe265Ser Uncertain significance Single submitter
- ABRA p.Phe333Leu Uncertain significance Single submitter
- ABRA p.Pro140Ser Uncertain significance Single submitter
- ABRA p.Pro221Thr Uncertain significance Single submitter
- ABRA p.Pro65Gln Uncertain significance Single submitter
- ABRA p.Pro86Arg Uncertain significance Single submitter
- ABRA p.Ser115Arg Uncertain significance Single submitter
- ABRA p.Ser153Asn Uncertain significance Single submitter
- ABRA p.Ser153Thr Uncertain significance Single submitter
- ABRA p.Ser15Asn Uncertain significance Single submitter
- ABRA p.Ser188Arg Uncertain significance Single submitter
- ABRA p.Ser266Ile Uncertain significance Single submitter
- ABRA p.Ser8Asn Uncertain significance Single submitter
- ABRA p.Thr183Ala Uncertain significance Single submitter
- ABRA p.Thr228Ile Uncertain significance Single submitter
- ABRA p.Thr67Lys Uncertain significance Single submitter
- ABRA p.Thr70Ala Uncertain significance Single submitter
- ABRA p.Tyr340Cys Uncertain significance Single submitter
- ABRA p.Val341Ile Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- ABRA p.Ala37Val Uncertain significance Single submitter
- ABRA p.Arg120Thr Uncertain significance Single submitter
- ABRA p.Arg159Trp Uncertain significance Single submitter
- ABRA p.Arg218Cys Uncertain significance Single submitter
- ABRA p.Arg218His Uncertain significance Single submitter
- ABRA p.Arg21His Uncertain significance Single submitter
- ABRA p.Arg288Cys Uncertain significance Single submitter
- ABRA p.Arg288His Uncertain significance Single submitter
- ABRA p.Arg301Cys Uncertain significance Single submitter
- ABRA p.Arg301His Uncertain significance Single submitter
- ABRA p.Arg342Cys Uncertain significance Single submitter
- ABRA p.Cys163Arg Uncertain significance Single submitter
- ABRA p.Gly32Arg Uncertain significance Single submitter
- ABRA p.Leu29Phe Uncertain significance Single submitter
- ABRA p.Met275Thr Uncertain significance Single submitter
- ABRA p.Met313Val Uncertain significance Single submitter
- ABRA p.Met320Thr Uncertain significance Single submitter
- ABRA p.Ser168Cys Uncertain significance Single submitter
- ABRA p.Ser259Phe Uncertain significance Single submitter
- ABRA p.Ser259Pro Uncertain significance Single submitter
- ABRA p.Thr112Lys Uncertain significance Single submitter
- ABRA p.Thr112Met Uncertain significance Single submitter
- ABRA p.Thr378Met Uncertain significance Single submitter
- ABRA p.Thr67Ile Likely benign Single submitter
- ABRA p.Val101Phe Uncertain significance Single submitter
- ABRA p.Val124Met Likely benign Single submitter
- ABRA p.Val341Leu Uncertain significance Single submitter
All ABRA variants
Likely benign 3
- p.Thr67Ile Single submitter ⚠
- p.Val124Met Single submitter ⚠
- p.Val189Ile Single submitter
Uncertain significance 73
- p.Ala37Val Single submitter ⚠
- p.Ala62Thr Single submitter ⚠
- p.Ala62Val Single submitter ⚠
- p.Arg120Thr Single submitter ⚠
- p.Arg149Ser Single submitter ⚠
- p.Arg159Trp Single submitter ⚠
- p.Arg203Lys Single submitter ⚠
- p.Arg218Cys Single submitter ⚠
- p.Arg218His Single submitter ⚠
- p.Arg218Pro Single submitter ⚠
- p.Arg21His Single submitter ⚠
- p.Arg248Lys Single submitter ⚠
- p.Arg288Cys Single submitter ⚠
- p.Arg288His Single submitter ⚠
- p.Arg301Cys Single submitter ⚠
- p.Arg301His Single submitter ⚠
- p.Arg308Thr Single submitter ⚠
- p.Arg342Cys Single submitter ⚠
- p.Arg342His Single submitter ⚠
- p.Arg355Gly Single submitter ⚠
- p.Arg371Gly Single submitter ⚠
- p.Asp207Gly Single submitter ⚠
- p.Asp91Gly Single submitter ⚠
- p.Cys163Arg Single submitter ⚠
- p.Gln258Glu Single submitter ⚠
- p.Gln57Arg Single submitter ⚠
- p.Glu132Lys Single submitter ⚠
- p.Glu178Ala Single submitter ⚠
- p.Glu5Gly Single submitter ⚠
- p.Gly155Ser Single submitter ⚠
- p.Gly195Ser Single submitter ⚠
- p.Gly282Glu Single submitter ⚠
- p.Gly32Arg Single submitter ⚠
- p.Gly349Ser Single submitter ⚠
- p.Gly370Ser Single submitter ⚠
- p.Gly54Ala Single submitter ⚠
- p.Ile377Met Single submitter ⚠
- p.Leu231Pro Single submitter ⚠
- p.Leu29Phe Single submitter ⚠
- p.Leu336Arg Single submitter ⚠
- p.Leu52Pro Single submitter ⚠
- p.Lys19Glu Single submitter ⚠
- p.Lys238Ile Single submitter ⚠
- p.Met275Thr Single submitter ⚠
- p.Met313Val Single submitter ⚠
- p.Met320Thr Single submitter ⚠
- p.Phe265Ser Single submitter ⚠
- p.Phe333Leu Single submitter ⚠
- p.Pro140Ser Single submitter ⚠
- p.Pro221Thr Single submitter ⚠
- p.Pro65Gln Single submitter ⚠
- p.Pro86Arg Single submitter ⚠
- p.Ser115Arg Single submitter ⚠
- p.Ser153Asn Single submitter ⚠
- p.Ser153Thr Single submitter ⚠
- p.Ser15Asn Single submitter ⚠
- p.Ser168Cys Single submitter ⚠
- p.Ser188Arg Single submitter ⚠
- p.Ser259Phe Single submitter ⚠
- p.Ser259Pro Single submitter ⚠
- p.Ser266Ile Single submitter ⚠
- p.Ser8Asn Single submitter ⚠
- p.Thr112Lys Single submitter ⚠
- p.Thr112Met Single submitter ⚠
- p.Thr183Ala Single submitter ⚠
- p.Thr228Ile Single submitter ⚠
- p.Thr378Met Single submitter ⚠
- p.Thr67Lys Single submitter ⚠
- p.Thr70Ala Single submitter ⚠
- p.Tyr340Cys Single submitter ⚠
- p.Val101Phe Single submitter ⚠
- p.Val341Ile Single submitter ⚠
- p.Val341Leu Single submitter ⚠